Episodic ataxia, type 5

Preferred Label : Episodic ataxia, type 5;

Symbol : EA5;

CISMeF acronym : EA5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calcium channel, voltage-dependent, beta-4 subunit gene (CACNB4, 601949.0002);

Prefixed ID : #613855;

Détails

Origin ID

613855;

UMLS CUI

C1866039;

Currated CISMeF NLP mapping
- Episodic ataxia type 5 [ORDO Disease]
- Episodic ataxia type 5 (disorder) [SNOMED CT concept]
- Episodic ataxia type 5 - CACNB4 mutation [ICD-11 More detail]
- episodic ataxia type 5 [DO Concept]
- episodic ataxia, type 5 [MeSH concept]
- episodic ataxia, type 5 [MeSH Supplementary Concept]
DO Cross reference
- episodic ataxia type 5 [DO Concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, beta-4 subunit [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Atypical absence seizure [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Dysarthria [HPO term]
- EEG with generalized spikes [HPO term]
- EEG with spike-wave complexes [HPO term]
- Episodic ataxia [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Incomplete penetrance [HPO term]
- Juvenile onset [HPO term]
- Myoclonus [HPO term]
- Postural instability [HPO term]
- Truncal ataxia [HPO term]
- Typical absence seizure [HPO term]
- Vertigo [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Episodic ataxia type 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic ataxia type 5 [ORDO Disease]
- Episodic ataxia type 5 (disorder) [SNOMED CT concept]
- Episodic ataxia type 5 - CACNB4 mutation [ICD-11 More detail]
- episodic ataxia type 5 [DO Concept]
- episodic ataxia, type 5 [MeSH Supplementary Concept]
- episodic ataxia, type 5 [MeSH concept]

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